Canonical Allele Identifier: CA10589024

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 266811
• ClinVar RCV Id: RCV000257716 ; RCV003644969
• dbSNP Id: rs886040529
• MyVariant Identifiers: chr13:g.32900253del (hg19) ; chr13:g.32326116del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326116del , CM000675.2:g.32326116del	GRCh38
NC_000013.10:g.32900253del , CM000675.1:g.32900253del	GRCh37
NC_000013.9:g.31798253del	NCBI36
NG_012772.3:g.15637del , LRG_293:g.15637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.441del	ENSP00000434898.2:p.Gln147HisfsTer5
ENST00000528762.2:c.441del	ENSP00000433168.2:p.Gln147HisfsTer5
ENST00000530893.7:c.72del	ENSP00000499438.2:p.Gln24HisfsTer5
ENST00000665585.2:c.441del	ENSP00000499570.2:p.Gln147HisfsTer5
ENST00000666593.2:c.441del	ENSP00000499256.2:p.Gln147HisfsTer5
ENST00000700202.2:c.441del	ENSP00000514856.2:p.Gln147HisfsTer5
ENST00000700200.1:n.312del
ENST00000700201.1:c.*220del	ENSP00000514855.1:n.*220del
ENST00000380152.8:c.441del MANE Select	ENSP00000369497.3:p.Gln147HisfsTer5
ENST00000544455.6:c.441del	ENSP00000439902.1:p.Gln147HisfsTer5
ENST00000614259.2:c.441del	ENSP00000506251.1:p.Gln147HisfsTer5
ENST00000680887.1:c.441del	ENSP00000505508.1:p.Gln147HisfsTer5
ENST00000380152.7:c.441del	ENSP00000369497.3:p.Gln147HisfsTer5
ENST00000530893.6:n.639del
ENST00000544455.5:c.441del	ENSP00000439902.1:p.Gln147HisfsTer5
ENST00000614259.1:n.441del
NM_000059.3:c.441del , LRG_293t1:c.441del	NP_000050.2:p.Gln147HisfsTer5
XM_011535203.1:c.441del	XP_011533505.1:p.Gln147HisfsTer5
XM_011535204.1:c.441del	XP_011533506.1:p.Gln147HisfsTer5
XM_011535205.1:c.441del	XP_011533507.1:p.Gln147HisfsTer5
NM_000059.4:c.441del MANE Select	NP_000050.3:p.Gln147HisfsTer5